ПРОБЛЕМА СЕМЕЙНОЙ ГЕТЕРОЗИГОТНОЙ ГИПЕРХОЛЕСТЕРИНЕМИИ В УЗБЕКИСТАНЕ: ТЕКУЩИЕ ЗАДАЧИ И РЕШЕНИЯ

Aim: Assessment of the severity of the initial condition and the effectiveness of treatment of patients with HeFH in the Uzbek population with a view to developing a program of early detection and treatment. Material and methods: The study included 105 patients with chronic stable coronary artery disease (SCAD) and heterozygous familial hypercholesterolemia (HeFH). 60 patients with SCAD are included in the comparison group. We use Dutch Lipid Clinic Network Criteria (DLCN) to diagnose FH. Serum level of PCSK– 9 was measured with ELISA Kit. Results. In patients with HeFH at a comparable age the duration of SCAD was 2 times greater, more often arterial hypertension (AH) (P<0.01), myocardial infarction (MI) (P<0.001), coronary artery bypass grafting (CABG), percutaneous transluminal coronary angioplasty in the anamnesis, than in compared group. The mean level of PCSK–9 in patients with HeFH was 778.5±552.8 ng/ml (from 258 to 2122 ng/ml), whereas in patients with non-FH – 562.8±186.7 ng/ml (from 167 to 993 ng/ml). Two months of treatment with rosuvastatinat a dose of 20–40 mg/dl was accompanied by a further increase in the concentration of PCSK–9 in patients with HeFH (914.7±460.5 ng/ml; from 411 to 2151 ng/ml), and also in the group with non-FH (726.2±412.9 ng/ml; from 242 to 1125 ng/ml), which may indicate the gradual formation in some patients of resistance to monotherapy. Сonclusion. Underestimation of early lipid studies and inadequate treatment in the group of 105 patients with FH led to the fact that in the middle age of 49 years, more than 50% of them suffered acute myocardial infarction and coronary artery bypass grafting. A necessary model is the introduction of technologies of early diagnostics of FH and the appointment of high-intensity statin therapy with achievement of the target level of LDL-C for primary prevention of CVD.